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CMS1B
Chr 2ADARcholinergic receptor nicotinic alpha 1 subunit
Also known as: ACHRA, ACHRD, CHRNA, CMS1A, CMS1B, CMS2A, FCCMS, SCCMS
The protein is an alpha subunit of the muscle acetylcholine receptor that binds acetylcholine and regulates channel gating at the neuromuscular junction. Mutations cause congenital myasthenic syndrome 1B with fast-channel kinetics, characterized by fatigable muscle weakness typically present from birth. Inheritance can be either autosomal dominant or autosomal recessive.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/CMS1B?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CMS1B · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools